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FLASH GENE
Symbol TFE3 contributors: mct - updated : 13-09-2013
HGNC name transcription factor binding to IGHM enhancer 3
HGNC id 11752
Location Xp11.23      Physical location : 48.886.241 - 48.900.990
Synonym name
  • renal cell carcinoma, papillary
  • transcription factor for IgH enhancer
  • Synonym symbol(s) RCCP2, TFEA, bHLHe33
    DNA
    TYPE functioning gene
    STRUCTURE 16.75 kb     11 Exon(s)
    10 Kb 5' upstream gene genomic sequence study
    regulatory sequence Promoter
    text structure regulated through an E-box
    MAPPING cloned Y linked Y status confirmed
    Map pter - DXS1011E - SYP - TFE3 - cen
    Physical map
    WAS Xp11.23-p11.22 Wiskott-Aldrich syndrome (eczema-thrombocytopenia) SUV39H1 Xp11.23 suppressor of variegation 3-9 homolog 1 (Drosophila) LOC392465 X similar to RIKEN cDNA 2010001H14 LOC389854 X similar to Acetyl-coenzyme A acyltransferase 2 GATA1 Xp11.23 GATA binding protein 1 (globin transcription factor 1) HDAC6 Xp11.23 histone deacetylase 6 ERAS Xpter-q26 ES cell expressed Ras PCSK1N Xp11.23 proprotein convertase subtilisin/kexin type 1 inhibitor TIMM17B Xp11.23 translocase of inner mitochondrial membrane 17 homolog B (yeast) PQBP1 Xp11.3 polyglutamine binding protein 1 SLC35A2 Xp11.23-p11.22 solute carrier family 35 (UDP-galactose transporter), member A2 PIM2 Xp11.3-p11.2 pim-2 oncogene DKFZp761A052 Xp11.23 hypothetical protein DKFZp761A052 KCND1 Xp11.23 potassium voltage-gated channel, Shal-related subfamily, member 1 GRIPAP1 Xp11 GRIP1 associated protein 1 TFE3 Xp11.23-p11.22 transcription factor binding to IGHM enhancer 3 JM11 Xp11.23 JM11 protein JM4 Xp11.23 JM11 protein JM5 Xp11.23 JM5 protein T54 Xp11.23 T54 protein FLJ21687 Xp11.23 PDZ domain containing, X chromosome PLP2 Xp11.23 proteolipid protein 2 (colonic epithelium-enriched) LMO6 Xp11.23-p11.22 LIM domain only 6 SYP Xp11.23-p11.22 synaptophysin CACNA1F Xp11.23 calcium channel, voltage-dependent, alpha 1F subunit LOC347348 Xp11.23 similar to Heat shock 27 kDa protein (HSP 27) (Stress-responsive protein 27) (SRP27) (Estrogen-regulated 24 kDa protein) (28 kDa heat shock protein) JM1 Xp11.23 JM1 protein FOXP3 Xp11.23 forkhead box P3 PPP1R3F Xp11.23 protein phosphatase 1, regulatory (inhibitor) subunit 3F LOC286408 Xp11.23 hypothetical LOC286408 LOC389855 X similar to G antigen 7
    RNA
    TRANSCRIPTS type messenger
    identificationnb exonstypebpproduct
    ProteinkDaAAspecific expressionYearPubmed
    11 - 3431 61.4 575 - 1991 1685140
    EXPRESSION
    Type ubiquitous
       expressed in (based on citations)
    organ(s)
    SystemOrgan level 1Organ level 2Organ level 3Organ level 4LevelPubmedSpeciesStageRna symbol
    Digestiveintestinesmall intestine  highly
    Respiratorylung   highly
     respiratory tractlarynx  highly
    Skeleton     
    Skin/Tegumentskin   highly
    cells
    SystemCellPubmedSpeciesStageRna symbol
    Skeletonosteoclast
    cell lineage
    cell lines
    fluid/secretion
    at STAGE
    physiological period fetal
    Text ubiquitous
    PROTEIN
    PHYSICAL PROPERTIES
    STRUCTURE
    motifs/domains
  • DNA binding protein with basic helix- loop- helix and leucine zipper domains
  • myosin tail
  • mono polymer homomer , dimer
    HOMOLOGY
    interspecies homolog to murine Mitf
    ortholog to murine Tcfe3
    homolog to C.elegans F15C11.1
    intraspecies homolog to microphtalmia (MITF)
    homolog to TFEB
    Homologene
    FAMILY
  • MiT family of basic helix-loop-helix (BHLH) transcription factors
  • BHLH-ZIP subfamily
  • MiT/TFE family
  • CATEGORY regulatory , DNA associated , transcription factor , tumor suppressor
    SUBCELLULAR LOCALIZATION     intracellular
    intracellular,cytoplasm
    intracellular,nucleus,chromatin/chromosome
    text different subcellular regulation of MITF and TFE3 may be due to the different roles that they play during osteoclast and macrophage differentiation
    basic FUNCTION
  • activator of transcription
  • transcriptionally activating hepatic IRS2, participating in insulin signaling and ameliorating diabetes
  • endogenous TFE3 and/or TFEB was required for endogenous CDH1 expression in embryonic kidney cells
  • TFE3 and TFEB are broadly expressed transcription factors related to the transcription factor MITF
  • TFE3 and TFEB are direct, physiological and mutually redundant activators of CD40LG expression in activated CD4(+) T cells critical for T cell-dependent antibody responses
  • involved in chromosomal translocations recurrent in different tumors and it plays, redundantly with MITF, an important role in the process of osteoclast formation, in particular during the transition from mono-nucleated to multi-nucleated osteoclasts
  • bHLH transcription factor that strongly activates various insulin signaling molecules, protecting against the development of insulin resistance and the metabolic syndrome
  • regulates the expression of MAFB during macrophage differentiation
  • regulator of mast cell functions
  • has a regulatory role in myoblast differentiation, and transcriptional suppression of MYOG expression may be part of the mechanism of action
  • transcription factor that binds to E-box motifs and promotes energy metabolism-related genes
  • regulates lipid metabolism by controlling the gene expression related to lipolysis and thermogenesis in adipose tissue
  • CELLULAR PROCESS nucleotide, transcription, regulation
    PHYSIOLOGICAL PROCESS development
    text
  • melanogenesis
  • activator of transcription
  • PATHWAY
    metabolism
    signaling
    a component
  • dimerization with another BHLH protein
  • INTERACTION
    DNA binding to IgH enhancer motif muE3 and to a USF/MLTF site
    RNA
    small molecule
    protein
  • activating of tyrosinase and TYRP1 promoter
  • IRS2, HK2 and INSIG1 are direct targets of TFE3
  • TFE3 and TFEC proteins may collaborate with MITF to efficiently regulate expression of target genes in osteoclasts
  • negatively regulated myogenin promoter activity by direct binding to an E-box, E2, in the MYOG promoter
  • directly integrates into the pluripotency circuitry through transcriptional regulation of ESRRB
  • directly binds to the insulin receptor substrate-2 promoter in the liver, resulting in increased insulin response
  • cell & other
    REGULATION
    ASSOCIATED DISORDERS
    corresponding disease(s)
    Other morbid association(s)
    TypeGene ModificationChromosome rearrangementProtein expressionProtein Function
    tumoral fusion translocation    
    t(X;1) (p11.2;q21.2) and fused with PRCC in papillary renal cell carcinoma
    tumoral fusion translocation    
    t(X;17) (p11.2;q25) and fused with ASPSCR1 in alveolar soft part sarcoma
    tumoral fusion      
    with CLTC in t(X;17)(p11.2;q23) in renal adenocarcinoma
    tumoral fusion      
    ASPL-TFE3 gene fusion associated with an acquired t(X,17) in a subset of RCC
    tumoral     --over  
    in clear cell (conventional) carcinoma and in some cases to papillary renal carcinoma
    constitutional     --over  
    during macrophage differentiation
    tumoral fusion      
    YAP1-TFE3 fusions in epithelioid hemangioendothelioma
    tumoral   translocation    
    with CAMTA1 in Epithelioid hemangioendotheliomas
    Susceptibility
    Variant & Polymorphism
    Candidate gene
    Marker
    Therapy target
    SystemTypeDisorderPubmed
    diabete  
    could be a therapeutic target for diabetes
    ANIMAL & CELL MODELS
    combined inactivation of Tfe3 and Tfeb in T cells resulted in a hyper-immunoglobulin M syndrome due to impaired expression of CD40 ligand by CD4(+) T cells